Laboratory for Molecular Medicine 65 Landsdowne Street, Cambridge, MA 02139 Tel: 617-768-8500 / Fax: 617-768-8513 Email: [email protected]

Pan Cardiomyopathy Panel (62 Genes) Association

Gene Inher. HCM DCM ARVC CPVT LVNC RCM Other Other diseases or syndromes

X ABCC9 AD X Cantu Syndrome ACTC1 AD XX XX ACTN2 AD XX ANKRD1 Unkn XX XX X BAG3 AD ** X Myofibrillar myopathy AD X CASQ2 AR X XX CAV3 AD X Limb‐girdle muscular dystrophy X Long QT CHRM2 AD X Unkn X CRYAB AD/AR ** X Myofibrillar myopathy CSRP3 AD XX X Myopathy reported with HCM AD XX X DES ** X Myofibrillar myopathy AD/AR X Limb‐girdle muscular dystrophy Duchenne/Becker muscular dystrophy DMD XL ** X Female carriers may develop isolated DCM DOLK AR X DSC2 AD XX DSG2 AD XX AD XX DSP AR ** ** X Carvajal syndrome DTNA AD X EMD XL ** X Emery‐Dreifuss muscular dystrophy FHL2 Unkn X GATAD1 AR X GLA XL ** X Fabry disease ILK Unkn X JPH2 Unkn X AD X JUP AR X Naxos disease LAMA4* Unkn X LAMP2 XL ** ** X Danon disease XX X LDB3 AD X Myofibrillar myopathy XX Limb‐girdle muscular dystrophy AD Charcot‐Marie‐Tooth disease LMNA X Malouf Syndrome Partial lipodystrophy AD/AR ** X Emery‐Dreifuss muscular dystrophy MURC AD X MYBPC3 AD XX XX MYH6* AD XX CHD XX XX Myopathies MYH7 AD X Laing distal myopathy X Myosin storage myopathy MYL2 AD X MYL3 AD XX MYLK2 Unkn X MYOM1 AD X MYOZ2 AD X MYPN AD XX NEBL Unkn XXEndocardial fibroelastosis NEXN Unkn XX PDLIM3 Unkn XX PKP2 AD XX PLN AD XXX PRDM16 Unkn XX PRKAG2 AD ** X Glycogen Storage Disease (with WPW) PTPN11 AD ** X Noonan spectrum disorders RAF1 AD ** X Noonan spectrum disorders RBM20 AD X RYR2 AD XXX Presentation can overlap with ARVC SCN5A AD XX X Brugada syndrome, Long QT syndrome AD X SGCD AR ** X Limb‐girdle muscular dystrophy TAZ XL ** ** X Barth syndrome Unkn X TCAP AR ** X Limb‐girdle muscular dystrophy TMEM43 AD X TNNC1 AD XX TNNI3 AD XX X TNNT2 AD XX XX TPM1 AD XX X TRDN AR X XXX AD X HMERF TTN* AD/AR X Tibial muscular dystrophy Centronuclear myopathy AR X Limb‐girdle muscular dystrophy TTR AD ** X Amyloidosis VCL AD XX X *Please note a few exons have been excluded based on technical difficulties in capture. Inher. = Inheritance Pattern, AD = autosomal dominant, AR = autosomal recessive, XL = X‐linked, HCM = hypertrophic cardiomyopathy, DCM = dilated cardiomyopathy, ARVC = arrhythmogenic right ventricular cardiomyopathy, CPVT = catecholaminergic polymorphic ventricular tachycardia, LVNC = left ventricular non‐compaction, RCM = restrictive

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